Giant tumoral calcinosis is frequently seen around the joints in patients on maintenance hemodialysis (MHD), while it is rarely seen in the scrotum alone. In this paper, we report a 46-year-old male MHD patient who had a giant painless mass in the right scrotum for 2 years, which was removed by a single complete resection and was pathologically confirmed to be tumoral calcinosis. The prognosis of the patient was satisfactory. Uremic scrotal mass should be distinguished from this disease.We are presenting a case of 42 year old male, suffering from secondary infertility. Nine years ago he developed bilateral scrotal pain followed by azoospermia and infertility. At our center during vasography we found that the dye was not seen in bladder or prostatic urethra. But interestingly a direct communication was observed between both seminal vesicles, and through that channel an indirect communication was observed between both vas deferens. It is suggested that the patient developed obstructive azoospermia as a sequel of epididymo-orchitis. It is also concluded that seminal vesicle communication was initially not a primary problem for patient's fertility.Neglected DJ stent is a challenging case, due to the procedures required, using fluoroscopy, as seen in ESWL, URS, and PCNL. This study presents the case of a 54 years old woman with pyelum and ureter stones, alongside neglected DJ stent for about a year. Treatment was started with cystoscopy, URS lithotripsy, which was continued with kidney puncture, and the subsequent dilatation with Alken Metal Telescopic Dilator. All steps were performed under the guidance of ultrasonography without fluoroscopy. The result showed a successful removal of DJ stent, which was achieved percutaneously, and no remaining stone was found.Tubulocystic renal cell carcinoma (RCC) is one of the newly recognized subtypes of RCC. It has a unique cystic morphology and indolent behavior. During the last decade, few studies have been published describing tubulocystic RCC with poorly differentiated foci. A subset of these cases are associated with loss of fumarate hydratase which is a characteristic feature of hereditary leiomyomatosis and renal cell carcinoma-associated RCC. However, these two entities represent two distinct subtypes of RCC in the recent WHO Classification of kidney tumors. Herein, we are describing a rare case of tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase.Capillary leak syndrome (CLS) is a rare disorder associated with an increased capillar permeability due to an endothelial damage, causing leakage of plasma and proteins into the interstitial compartment. CLS is characterized by rapidly developing edema, hypotension and hypoproteinemia. We observed CLS in a 54-year-old man affected by muscle-invasive bladder cancer who received neoadjuvant treatment with Cisplatin and Gemcitabine. Treatment with infusion of albumin and increasing corticosteroid doses and diuretics led to a complete regression of all signs and symptoms related to the disorder. Of note, the patient showed an objective complete response to chemotherapy and underwent radical surgery on schedule. Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase ( ) gene with a resulting accumulation of phenylalanine (Phe) to neurotoxic levels. Diagnosis of PKU in the Latvian population began in 1985 and the present study's aim was to evaluate the available data on all PKU patients in Latvia. The medical records of 116 - DNA sample was available in 110 patients (102 nonrelated individuals) diagnosed with PKU in Latvia were obtained. Phe concentrations were measured in dried blood spots. Genomic DNA was analyzed for pathogenic variants in the gene. Biochemical data were available through follow-up visits of the 83 patients. In 97% of patients (99 of 102), pathogenic variants were detected on both alleles. With an occurrence of 69.6%%, the most common pathogenic variant was the severe pathogenic variant p.Arg408Trp. The available data for 83 patients revealed that metabolic control was better in younger age groups and worse in adults. Latvia exhibits a relatively homogeneous pool of disease-causing PKU alleles with a high prevalence of the classical severe form of PKU. Dietary compliance in all patients' groups is lower than expected, especially it is poor in adult age group.Latvia exhibits a relatively homogeneous pool of disease-causing PKU alleles with a high prevalence of the classical severe form of PKU. Dietary compliance in all patients' groups is lower than expected, especially it is poor in adult age group.An outcome measure of toileting skills, the Toileting Abilities Survey or TAS, with sensitivity to detect change in a neurodegenerative disorder such as MPS II, was developed. The TAS was used in a research study of patients (n = 86) with the neuronopathic form of MPS II to measure treatment benefit of intrathecal idursulfase. Treatment with idursulfase and intrathecal idursulfase is associated with significantly higher individual and overall toileting skills versus treatment with idursulfase alone. Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. 7ACC2 cost Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic.